Talk:Kallmann syndrome

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[edit] Kallmann's

Kallmann's syndrome is a rare hormonal condition that is chiefly characterised by a failure of a boy or girl to enter puberty at the required time.

It is a form of hypogonadotrophic hypogondasim (HH). In essence this means that the hormonal control of the development of puberty from the brain has been disrupted. The testes or the ovaries do not get the required signals to start puberty so the person will remain in the pre-puberty state. Kallmann's syndrome is HH in addition to having a no sense of smell.

I was diagnosed late with this condition (aged 24) after years of being told to go away and wait and see by doctors, being dismissed as a late developer.

This condition is very under diagnosed and is not even known by a lot of doctors. No boy aged 15 or girl aged 14 should ever be dismissed as a late developer, thet should always be referred to an endocrinologist.

The pyschological damage of being left behind your own peer group can in some cases be immense, and affect the person for the rest of their lives. However with early diagnosis and treatment the condition is easily controlled.

Treatment is available ot replace the missing hormones that should have been produced by the testes or ovaries since puberty. There are also fertility treatments avaialble, which work for a fair percentage of people with Kallmann's or HH.

If left undiagnosed and untreated a person will not produce the required levels of testosterone or oestrogen. They will very likely be infertile and run a hight risk of developing the condition osteoporosis, or brittle bone disease.

For more information go to:

[1]Information web site

There is also a e-mail forum on Yahoo which can be helpful:

[2]Yahoo e-mail forum


Neilsmith38 12:17, 5 September 2006 (UTC)

[edit] Reversions to text

I have reverted recent edits which converted the name Kallmann syndrome to Kallmann's syndrome. The NIH and WHO have adopted guidelines for eponymous syndromes which removes the possessive naming convention. Thus, Down's syndrome becomes Down Syndrome, Kallmann's syndrome becomes Kallmann syndrome, etc. I have also removed some unreferenced additions such which should be replaced by referenced statements (such as the line stating that "Most specialists now agree that any girl aged 13 or boy aged 15 who has not shown the initial stages of puberty should be referred to an endocrinologist for evaluation." I could find no evidence to support this statement through AAP, several Endocrinologic Societies, and pubmed. In fact, especially for boys, the typical age for diagnosis of delayed puberty is 14 years, not 13. InvictaHOG 21:00, 5 September 2006 (UTC)

I quite appreciate your revision, but the age of diagnosis of delayed puberty comes from one of the leading Kallmann syndrome specialists here in the UK. In a letter to the British Medical Journal:

[3]

He highlights the problems of the late diagnosis of Kallmann syndrome and suggests that cases of delayed puberty at the age of 15 should be referred to an endocrinologist.

All the statements I put do come from conversations I have with specialists over in the UK, and by reading the published medical papers. I will try to link any statement to a specific medical paper in future.

Neilsmith38 23:03, 5 September 2006 (UTC)

On further reading I am a little concerned that you took out the statement referring to anosmia and cryptorchidism in conjunction being a good indicator towards Kallmann syndrome. I believe this to be a fair comment. I will access a recent paper and publish a link to it.


I think there could be some changes to the epidemiology section, there are autosomal recessive genes linked to Kallmann syndrome now, most notably the GPR-54 gene on chromosome 19 and the KISS peptide gene on chromosome 1. There was a very good article in New Scientist on this very matter, as the puberty regulation genes. If I can get some references together I may do an edit if this is acceptable.

I do this in a good natured way, I have no wish to argue with anybody, I just want to make sure there is good information on the web.

Neilsmith38 23:17, 5 September 2006 (UTC)

I agree - I didn't intend to take out the cryptorchidism, it's just that it was pretty much covered elsewhere. Perhaps I could have just better incorporated it. The article needs a lot of work and I certainly invite you to improve it! The autosomal recessive genes should be added with a discussion (one OMIM page with references is Online 'Mendelian Inheritance in Man' (OMIM) 244200). As for the age of delayed puberty, it might be best to reword it to 14 for boys and, instead of a recommendation for referral, simply stating that a work-up should be initiated (ie a pediatric endocrinologist is not needed until a diagnosis is made!) InvictaHOG 00:11, 6 September 2006 (UTC)

[edit] External links

External links on Wikipedia are supposed to be "encyclopedic in nature" and useful to a worldwide audience. Please read the external links policy (and perhaps the specific rules for medicine-related articles) before adding more external links.

The following kinds of links are inappropriate:

  • Online discussion groups or chat forums
  • Personal webpages and blogs
  • Multiple links to the same website
  • Fundraising events or groups
  • Websites that are recruiting for clinical trials
  • Websites that are selling things (e.g., books or memberships)

I realize that some links are helpful to certain users, but they still do not comply with Wikipedia policy, and therefore must not be included in the article. WhatamIdoing (talk) 06:39, 17 January 2008 (UTC)